Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study.

Background: X-linked hypophosphatemic rickets (XLH) is associated with uninhibited FGF23 activity, which leads to phosphaturia, hypophosphatemia and depressed active vitamin D (1,25OH2D) levels. Conventional treatment with phosphate supplements and vitamin D analogs may lead to hypercalciuria (HC), nephrocalcinosis (NC) and hyperparathyroidism. We investigated the effects of burosumab treatment, an anti-FGF23 monoclonal antibody recently approved for XLH, on these complications.

Radiological features in pediatric myelin oligodendrocyte glycoprotein antibody-associated disease-diagnostic criteria and lesion dynamics.

The spectrum of acquired pediatric demyelinating syndromes has been expanding over the past few years, to include myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), as a distinct neuroimmune entity, in addition to pediatric-onset multiple sclerosis (POMS) and aquaporin 4-IgG-seropositive neuromyelitis optica spectrum disorder (AQP4+NMOSD). The 2023 MOGAD diagnostic criteria require supporting clinical or magnetic resonance imaging (MRI) features in patients with low positive myelin oligodendrocyte glycoprotein IgG titers or when the titers are not available, highlighting the diagnostic role of imaging in MOGAD. In this review, we summarize the key diagnostic features in MOGAD, in comparison to POMS and AQP4+NMOSD.

Exploring the thalamus L-sign: initial findings and associations with white matter injury in premature infants.

Background: The thalamus L-sign, characterized by damage to the lateral and posterior parts of the thalamus, has recently been identified as a potential marker of partial prolonged hypoxic-ischemic injury (HII). Although prematurity-related thalamic injury is well documented, its association with the thalamus L-sign is infrequently described.

Objective: The primary objective of this study was to further investigate the thalamus L-sign in premature birth and white matter injury.

Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling.

Histiocytoses are inflammatory myeloid neoplasms often driven by somatic activating mutations in mitogen-activated protein kinase (MAPK) cascade genes. H syndrome is an inflammatory genetic disorder caused by germ line loss-of-function mutations in SLC29A3, encoding the lysosomal equilibrative nucleoside transporter 3 (ENT3). Patients with H syndrome are predisposed to develop histiocytosis, yet the mechanism is unclear.

Isolated Brain Cysts in Children Afflicted with Congenital Cytomegalovirus.

In our clinic, isolated brain cysts identified via early ultrasound are considered as central nervous system involvement in infants with children with congenital cytomegalovirus (cCMV). All infants were diagnosed with caudothalamic or subependymal cysts. When treated according to the cCMV protocol, these patients have an excellent prognosis and no neurological sequelae.

Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.

Background: SUMOylation involves the attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on thousands of substrates with target-specific effects on protein function. Sentrin-specific proteases (SENPs) are proteins involved in the maturation and deconjugation of SUMO. Specifically, SENP7 is responsible for processing polySUMO chains on targeted substrates including the heterochromatin protein 1α (HP1α).

External lumbar drainage in progressive pediatric idiopathic intracranial hypertension.

Objective: Pediatric idiopathic intracranial hypertension (IIH) is characterized by increased intracranial pressure despite normal cerebrospinal fluid and neuroimaging findings. Initial management is typically medical; however, nearly 10% of children will eventually require surgery for persistent headache and/or vision loss. External lumbar drainage, which is a considerably safer treatment option, has not been adequately analyzed in children with medically refractory IIH.

[THE ROLE OF BONE SCINTIGRAPHY IN THE DIAGNOSIS OF CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS IN CHILDREN].

This case report presents a teenage girl hospitalized due to fever, left wrist pain and elevated inflammatory markers. These clinical findings, as well as a lytic lesion seen on plain radiographs and MRI in the distal left radius, led to the working diagnosis of acute osteomyelitis. Following 4 weeks of antibiotic therapy, a bone scan was conducted due to inadequate clinical response.

Trametinib for orbital plexiform neurofibromas in young children with neurofibromatosis type 1.

Introduction: Plexiform neurofibromas (PNF) in neurofibromatosis type 1 (NF1) are usually diagnosed in childhood and can grow rapidly during this period. In 10% of patients, PNF involve the orbital-periorbital area and may cause visual problems including glaucoma, visual loss from amblyopia (deprivational, strabismic, or refractive), optic nerve compression, or keratopathy. Ptosis, proptosis, and facial disfigurement lead to social problems and decreased self-esteem.

Neuroimaging in Children with Ophthalmological Complaints: A Review.

Pediatric patients are commonly referred to imaging following abnormal ophthalmological examinations. Common indications include papilledema, altered vision, strabismus, nystagmus, anisocoria, proptosis, coloboma, and leukocoria. Magnetic resonance imaging (MRI) of the brain and orbits (with or without contrast material administration) is typically the imaging modality of choice.

The Modified Bosniak Classification for Intermediate-Risk Renal Cysts in Children.

Objectives: To examine correlations of the modified Bosniak categories assigned by radiologists to histological results and inter-rater reliability, focusing on intermediate-risk lesions.

Materials And Methods: The data of pediatric patients who underwent surgery for intermediate-risk complex renal cyst at a tertiary medical center in 2006-2019 were collected retrospectively. Four pediatric radiologists from 2 different medical centers reviewed the available imaging scans, and assigned each to one of the four modified Bosniak classification categories.

Not only appendicitis: rare appendix disorders manifesting as surgical emergencies in children.

Acute appendicitis is the most common cause of acute abdominal pathology in children. However, other rare non-inflammatory non-neoplastic disorders involving the appendix may manifest as surgical emergencies. This study aimed to describe these atypical entities and present representative cases.

The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex.

Constitutional mismatch repair deficiency is a rare cancer predisposition syndrome caused by biallelic mutations in one of the four mismatch repair genes. Patients are predisposed to various tumors including hematological malignancies, brain tumors and colorectal carcinomas. Phenotypic overlap with Neurofibromatosis-1 is well known, with most patients presenting with café-au-lait macules.

Imaging features of primary hyperoxaluria.

Primary hyperoxaluria (PH) is a group of autosomal recessive diseases that affect the metabolism of glyoxalate and oxalate. As a result of the enzymatic deficiency, there is overproduction and urinary excretion of oxalate with progressive renal damage and subsequent deposition of oxalate salts in various tissues. The definitive treatment in cases of end-stage kidney disease is a combined liver and kidney transplant.

Preferential sites of metastatic relapse on MRI of initially localized ependymoma in children.

Objective: Relapse of ependymoma in childhood portends a grave prognosis. While the detection of local recurrence is usually simple, spotting leptomeningeal metastasis might be challenging. We aimed to evaluate possible "hotspots" where metastasis tend to appear.

Impact of Increased Visceral Fat Measured by CT on Colon Adenocarcinoma Stage.

Purpose: Obesity is considered a risk factor for colon cancer. Worse outcome observed in colon cancer patients with obesity may have several mechanisms. However, the influence of obesity on colon cancer stage is yet to be clarified.

Role of Plain Abdominal Radiographs in the Evaluation of Patients with Non-Traumatic Abdominal Pain.

Background: Plain abdominal radiographs are still performed as a first imaging examination to evaluate abdominal pain in the emergency department (ED), despite uncertainty regarding their utility.

Objectives: To describe the frequency and outcomes of the use of plain abdominal radiographs in the diagnosis of patients presenting with acute non-traumatic abdominal pain in the ED of a medical center.

Methods: We retrospectively reviewed the records of patients presenting to the ED with acute abdominal pain during a 6 month period.

Sonographic Diagnosis of Complicated Cholecystitis.

Objectives: Early detection of the complications of cholecystitis is important for clinical management, yet only a small percentage of patients have a correct diagnosis before surgery. The purpose of our study was to identify sonographic findings that are associated with complicated cholecystitis.

Methods: Sonographic, surgical, and pathologic reports were reviewed for 70 patients who underwent early cholecystectomies from January 2010 to August 2014.

Giant colonic diverticulum: radiographic and MDCT characteristics.

Giant colonic diverticulum (GCD), defined as a diverticulum larger than 4 cm, is a rare entity that is generally a manifestation of colonic diverticular disease. Because of its rarity and its variable and non-specific presentation, the diagnosis of GCD depends mainly on imaging findings. Knowledge of the spectrum of radiographic and CT features of the GCD is important in making the correct diagnosis and potentially preventing complications.

The diagnostic accuracy of pericolonic fat extension and attenuation for colorectal tumors.

Objective: To evaluate the utility of quantitative analysis of the extension and attenuation of pericolonic fat in the local staging of colorectal cancer (CRC) using multi detector computed tomography (MDCT).

Materials And Methods: This was a retrospective study of 110 patients who were operated due to pathologically proven CRC from January 2007 to January 2010, and who underwent preoperative MDCT of the abdomen and pelvis with administration of intravenous contrast material and image acquisition during the portal venous phase. The mean age was 69 years (range of 38-90 years).

Diagnosis of gallbladder perforation by ultrasound.

Purpose: The aim of this study was to identify possible pitfalls in the sonographic evaluation of perforated gallbladders.

Methods: This is a retrospective analysis of sonograms of 11 patients diagnosed by surgery or pathology with perforated gallbladder. Sonograms were evaluated for multiple sonographic features.